Variant #0000873271 (NC_000015.9:g.31360289G>A, NM_002420.5:c.220C>T (TRPM1))

Individual ID 00414206
Chromosome 15
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic (recessive)
DNA change (genomic) (Relative to hg19 / GRCh37) g.31360289G>A
DNA change (hg38) g.31068086G>A
Published as TRPM1 c.220C>T [p.R74C]
ISCN -
DB-ID TRPM1_000091 See all 6 reported entries
Variant remarks heterozygous
Reference PubMed: Li 2009
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation yes
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 3.0E-5 View details
Owner LOVD
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Anna Tracewska
Date created 2022-07-27 15:11:06 +02:00 (CEST)
Date last edited 2022-07-27 15:11:43 +02:00 (CEST)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
TRPM1 NM_001252020.1 +?/. - c.337C>T r.(?) p.(Arg113Cys)
TRPM1 NM_001252024.1 +?/. - c.286C>T r.(?) p.(Arg96Cys)
TRPM1 NM_002420.5 +?/. - c.220C>T r.(?) p.(Arg74Cys)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000415485 DNA SEQ blood - TRPM1 2 LOVD


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.